N20D (p.Asn20Asp) variant of HBB (Hemoglobin subunit beta)
N20D (p.Asn20Asp) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance; other in the context of beta Thalassemia; HEMOGLOBIN ALAMO. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
N20D (p.Asn20Asp) variant details
- p.Asn20Asp
- rs34866629
- ClinGen CA124718
- ClinVar RCV000016246
- ClinVar RCV005614370
- Uncertain significance; other
- beta Thalassemia; HEMOGLOBIN ALAMO
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.10
- ClinVar: Uncertain significance; other (beta Thalassemia; HEMOGLOBIN ALAMO)
- EBI: Benign (in Alamo)
- UniProt: Benign (in Alamo)
- Structural context available
- Cited in: Hemoglobin Alamo [alpha 2 beta 2(19)(B1)Asn----Asp] in a Venezuelan family. (PMID 3623973)
- Cited in: Hemoglobin Alamo (alpha2beta2 19 (b1) Asn replaced by Asp). (PMID 914645)